Paediatric genomic testing: Navigating medicare rebatable genomic testing.
J Paediatr Child Health
; 57(4): 477-483, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33566436
ABSTRACT
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Pediatria
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Aged
/
Child
/
Humans
País/Região como assunto:
Oceania
Idioma:
En
Revista:
J Paediatr Child Health
Assunto da revista:
PEDIATRIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Austrália